TFR2
Summary: This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| transferrin receptor 2 | MIM:604720 | Ensembl:ENSG00000106327 | HGNC:HGNC:11762 | PA36477 | 7q22.1 |
GO terms in TFR2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004998 | transferrin receptor activity |
| MF | NAS | GO:0004998 | transferrin receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0033570 | transferrin transmembrane transporter activity |
| MF | IPI | GO:0039706 | co-receptor binding |
| BP | NAS | GO:0006826 | iron ion transport |
| BP | TAS | GO:0006879 | cellular iron ion homeostasis |
| BP | IGI | GO:0006898 | receptor-mediated endocytosis |
| BP | IEA | GO:0006953 | acute-phase response |
| BP | IMP | GO:0010039 | response to iron ion |
| BP | IGI | GO:0033216 | ferric iron import |
| BP | IGI | GO:0033572 | transferrin transport |
| BP | TAS | GO:0033572 | transferrin transport |
| BP | IGI | GO:0045807 | positive regulation of endocytosis |
| BP | IGI | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IC | GO:0055072 | iron ion homeostasis |
| BP | IMP | GO:0055072 | iron ion homeostasis |
| BP | IGI | GO:0071281 | cellular response to iron ion |
| BP | IMP | GO:0090277 | positive regulation of peptide hormone secretion |
| BP | IGI | GO:0097286 | iron ion import |
| BP | IGI | GO:1903319 | positive regulation of protein maturation |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IGI | GO:0005887 | integral component of plasma membrane |
| CC | NAS | GO:0005887 | integral component of plasma membrane |
| CC | IGI | GO:0009897 | external side of plasma membrane |
| CC | IDA | GO:0031410 | cytoplasmic vesicle |
| CC | IDA | GO:1990712 | HFE-transferrin receptor complex |
Gene expression in normal tissue: TFR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TFR2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-917937 | Iron uptake and transport |
| reactome | R-HSA-917977 | Transferrin endocytosis and recycling |
| wikipathways | WP2007 | Iron metabolism in placenta |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD23 | Gossypol | 3 |
| iGMDRD268 | Cerulenin | 6 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD690 | PRIMA-1MET | 6 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD224 | Necrostatin-1 | 3 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 3 |
| iGMDRD318 | PAC-1 | 6 |
| iGMDRD294 | Batimastat | 1 |
| iGMDRD802 | 4-methylfasudil | 4 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD247 | Blebbistatin | 6 |
| iGMDRD375 | GW-405833 | 3 |
| iGMDRD634 | SCHEMBL2608041 | 5 |
| iGMDRD380 | Pifithrin-alpha | 6 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD201 | SKI II | 3 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD889 | Compound 7d-cis | 3 |
| iGMDRD579 | PF750 | 1 |
| iGMDRD772 | BRD4770 | 6 |
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD147 | Prima-1 | 3 |
| iGMDRD329 | Merck60 | 6 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD213 | SMR000068650 | 6 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD945 | ML214 | 6 |
| iGMDRD219 | Bax channel blocker | 3 |
| iGMDRD701 | NVP-AUY922 | 3 |
| iGMDRD607 | Ubistatin B | 6 |
| iGMDRD148 | Pifithrin-mu | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TFR2
CLASSFICATION
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